Incidental Mutation 'IGL00674:Mrpl20'
ID 12082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl20
Ensembl Gene ENSMUSG00000029066
Gene Name mitochondrial ribosomal protein L20
Synonyms 2610008D01Rik, 4930425I20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # IGL00674
Quality Score
Status
Chromosome 4
Chromosomal Location 155887335-155893288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155893041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 91 (F91L)
Ref Sequence ENSEMBL: ENSMUSP00000139169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000030944] [ENSMUST00000130188] [ENSMUST00000137487] [ENSMUST00000185148]
AlphaFold Q9CQL4
Predicted Effect probably benign
Transcript: ENSMUST00000030942
AA Change: F128L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066
AA Change: F128L

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 11 116 2.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030944
SMART Domains Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068

DomainStartEndE-ValueType
low complexity region 1 30 N/A INTRINSIC
CYCLIN 81 183 8.74e-11 SMART
Cyclin_C 192 315 9.58e-5 SMART
CYCLIN 196 280 1.24e-15 SMART
low complexity region 334 351 N/A INTRINSIC
low complexity region 376 428 N/A INTRINSIC
Blast:CYCLIN 429 478 5e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000126346
SMART Domains Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068

DomainStartEndE-ValueType
Blast:CYCLIN 2 52 2e-28 BLAST
SCOP:d1vin_1 29 59 9e-4 SMART
SCOP:d1jkw_2 62 87 8e-4 SMART
Blast:CYCLIN 65 87 5e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129850
Predicted Effect probably benign
Transcript: ENSMUST00000130188
SMART Domains Protein: ENSMUSP00000139007
Gene: ENSMUSG00000029066

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 94 6.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136370
Predicted Effect probably benign
Transcript: ENSMUST00000137487
AA Change: F128L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066
AA Change: F128L

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 116 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185148
AA Change: F91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066
AA Change: F91L

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 79 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139066
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 T A 15: 57,971,782 (GRCm39) Q365L possibly damaging Het
Cd2ap A T 17: 43,119,676 (GRCm39) N492K probably benign Het
Fam114a1 T A 5: 65,137,347 (GRCm39) S97T probably benign Het
Fbxw8 C T 5: 118,233,658 (GRCm39) M324I possibly damaging Het
Gpx6 A G 13: 21,497,978 (GRCm39) probably benign Het
Kbtbd3 A G 9: 4,329,949 (GRCm39) T108A probably benign Het
Lrrd1 T C 5: 3,899,773 (GRCm39) I26T possibly damaging Het
Mark1 C T 1: 184,644,303 (GRCm39) G454S probably benign Het
Nt5c3b A T 11: 100,323,735 (GRCm39) probably benign Het
Osbpl2 T C 2: 179,792,051 (GRCm39) Y252H possibly damaging Het
Pard3 A G 8: 128,115,159 (GRCm39) N626D probably damaging Het
Pbrm1 C T 14: 30,840,733 (GRCm39) P1612S probably damaging Het
Prl3d3 T C 13: 27,343,114 (GRCm39) probably null Het
Sall4 T C 2: 168,597,700 (GRCm39) D380G probably damaging Het
Sema3b A C 9: 107,481,240 (GRCm39) probably null Het
Spred1 C T 2: 117,008,339 (GRCm39) P415L probably damaging Het
Tnc T A 4: 63,883,844 (GRCm39) D1958V probably damaging Het
Tnfsf15 A G 4: 63,652,483 (GRCm39) probably benign Het
Usp24 T A 4: 106,229,876 (GRCm39) probably benign Het
Other mutations in Mrpl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3055:Mrpl20 UTSW 4 155,888,329 (GRCm39) missense possibly damaging 0.89
R3056:Mrpl20 UTSW 4 155,888,329 (GRCm39) missense possibly damaging 0.89
R4082:Mrpl20 UTSW 4 155,892,970 (GRCm39) missense probably damaging 0.99
R4846:Mrpl20 UTSW 4 155,892,993 (GRCm39) missense possibly damaging 0.85
R5305:Mrpl20 UTSW 4 155,888,162 (GRCm39) missense probably damaging 1.00
R5779:Mrpl20 UTSW 4 155,891,378 (GRCm39) missense probably damaging 1.00
R6576:Mrpl20 UTSW 4 155,891,371 (GRCm39) missense probably benign 0.08
R9360:Mrpl20 UTSW 4 155,888,402 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06